List of works - Sarah Edkins

Mutations of the BRAF gene in human cancer

scientific article (publication date: 27 June 2002)

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

scientific article

Signatures of mutation and selection in the cancer genome

scientific article

A comprehensive catalogue of somatic mutations from a human cancer genome

scientific article

A small-cell lung cancer genome with complex signatures of tobacco exposure

scientific article

Genome-wide association analysis identifies 13 new risk loci for schizophrenia

scientific article published in October 2013

Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes

scientific article

Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility

scientific article

A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.

scientific article

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

scientific article

Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis

scientific article published on 29 September 2013

Complex landscapes of somatic rearrangement in human breast cancer genomes

scientific article

Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing

scientific article

Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer

scientific article

Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways

scientific article

Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility

scientific article

Lung cancer: intragenic ERBB2 kinase mutations in tumours

scientific article

Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region

scientific article

Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

scientific journal article

High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis

scientific article

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

scientific article

Mutation analysis of 24 known cancer genes in the NCI-60 cell line set.

scientific article

Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke

scientific article

Chromosomally unstable mouse tumours have genomic alterations similar to diverse human cancers

scientific article published on 21 May 2007

Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes

scientific article

Somatic mutations of the protein kinase gene family in human lung cancer

scientific article published on September 2005

A screen of the complete protein kinase gene family identifies diverse patterns of somatic mutations in human breast cancer

scientific article published on 22 May 2005

A hypermutation phenotype and somatic MSH6 mutations in recurrent human malignant gliomas after alkylator chemotherapy

scientific article

Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits

scientific article

Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci

scientific article

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

scientific article

The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals

scientific article published on 12 September 2016

Similarity of the phenotypic patterns associated with BRAF and KRAS mutations in colorectal neoplasia.

scientific article

PICNIC: an algorithm to predict absolute allelic copy number variation with microarray cancer data

scientific article

Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor

scientific article

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

scientific article

Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21.

scientific article

Architectures of somatic genomic rearrangement in human cancer amplicons at sequence-level resolution

scientific article

Recurrent KRAS codon 146 mutations in human colorectal cancer

scientific article published on August 2006

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

article

SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome

scientific article published on 13 March 2008

Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus

scientific article

Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation

scientific article

Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus

scientific article

Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1

scientific article

Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation

scientific article

Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus

scientific article

The V617F JAK2 mutation is uncommon in cancers and in myeloid malignancies other than the classic myeloproliferative disorders

scientific article

Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation

scientific article

A genome wide linkage search for breast cancer susceptibility genes

scientific article published on July 2006

List of works by Sarah Edkins

Mutations of the BRAF gene in human cancer

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

Signatures of mutation and selection in the cancer genome

A comprehensive catalogue of somatic mutations from a human cancer genome

A small-cell lung cancer genome with complex signatures of tobacco exposure

Genome-wide association analysis identifies 13 new risk loci for schizophrenia

Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes

Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility

A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis

Complex landscapes of somatic rearrangement in human breast cancer genomes

Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing

Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer

Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways

Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility

Lung cancer: intragenic ERBB2 kinase mutations in tumours

Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region

Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Mutation analysis of 24 known cancer genes in the NCI-60 cell line set.

Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke

Chromosomally unstable mouse tumours have genomic alterations similar to diverse human cancers

Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes

Somatic mutations of the protein kinase gene family in human lung cancer

A screen of the complete protein kinase gene family identifies diverse patterns of somatic mutations in human breast cancer

A hypermutation phenotype and somatic MSH6 mutations in recurrent human malignant gliomas after alkylator chemotherapy

Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits

Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals

Similarity of the phenotypic patterns associated with BRAF and KRAS mutations in colorectal neoplasia.

PICNIC: an algorithm to predict absolute allelic copy number variation with microarray cancer data

Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21.

Architectures of somatic genomic rearrangement in human cancer amplicons at sequence-level resolution

Recurrent KRAS codon 146 mutations in human colorectal cancer

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome

Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus

Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation

Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus

Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1

Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation

Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus

The V617F JAK2 mutation is uncommon in cancers and in myeloid malignancies other than the classic myeloproliferative disorders

Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation

A genome wide linkage search for breast cancer susceptibility genes